Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/1805
Título: Cutaneous Leiomyomatosis in a Mother and Daughter
Outros títulos: Leiomiomatose Cutânea em Mãe e Filha
Autor: Lencastre, A
Cabete, J
Gonçalves, R
João, A
Fidalgo, A
Palavras-chave: HSAC DER
Biópsia
Carcinoma de Células Renais
Neoplasias do Útero
Fumarato Hidratase
Predisposição Genética para a Doença
Neoplasias Renais
Leiomiomatose
Pele
Neoplasias da Pele
HDE GEN
Data: 2013
Editora: Scielo
Citação: An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):124-7
Resumo: A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.
Peer review: yes
URI: http://hdl.handle.net/10400.17/1805
Aparece nas colecções:DER - Artigos

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